Abstract

William’s Syndrome is a rare genetic disorder associated with developmental delay, gregarious personality, characteristic facies, multiple medical complications and valvular heart disease. Urologic and gastrointestinal complications including motor abnormalities and diverticulosis of the bladder and colon are commonly present. We present a case of a 37 year old male with William’s Syndrome who originally demonstrated typical bladder and bowel dysfunction associated with the condition, but also later developed severe dysphagia and associated weight loss. An esophagram revealed the presence of three large distal (epiphrenic) esophageal diverticula. These are most often caused by the presence of an underlying esophageal motility disorder. High-resolution esophageal manometry was performed and showed multiple simultaneous contractions and non-propagated contractions with swallowing maneuvers, consistent with the diagnosis of diffuse esophageal spasm (DES). This is the first case of an esophageal motor disorder described in a patient with William’s Syndrome and supports the concept that there is a generalized visceral neuromuscular dysfunction present in these patients.

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